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The 1 GoLoco Repeats and their disease

S.NOUniprot ID Protein Name Sequence LengthGoLoco Repeats regionDisease
1 P81274 G-protein-signaling modulator 2 684"DISEASE: Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia.
Some patients have hydrocephalus.
Psychomotor development is normal.
Note=The disease is caused by mutations affecting the gene represented in this entry".